Factores de riesgo para alteraciones posturales en niños y adolescentes y el rol del fisioterapeuta en su manejo. Revisión narrativa

Scoliosis, cervical hyperkyphosis, and lumbar hyper lordosis are musculoskeletal disorders of the spine that often begin in childhood and adolescence. The studies show a high incidence of postural alterations in these stages of the life course, with multifactorial causes that can affect health even in adulthood. In Colombia there is little information on postural risk factors and the role of the physiotherapist in these populations which added to the characteristics of the school and national environment It can deepen this problem. Therefore, the need to implement programs that reduce the incidence of these postural alterations starting from their knowledge is evidenced.  The purpose of this article was to review the current evidence on risk factors and the importance of physiotherapist intervention in children and adolescents in relation to posture. The main intrinsic risk factors were age, sex, race, and genetics, and the extrinsic ones: the excessive weight of the backpack, the inappropriate use of school furniture, and spending prolonged times in certain positions. It has also been concluded that the physiotherapist plays an important role in the prevention and diagnosis of postural alterations in children and adolescents, avoiding early complications and positively impacting the health of this population.La escoliosis, hipercifosis cervical e hiperlordosis lumbar son desórdenes musculoesqueléticos de la columna vertebral que con frecuencia inician en la niñez y la adolescencia. Estudios mostraron alta incidencia de alteraciones posturales en estas etapas del curso de vida, con causas multifactoriales y que llegan a afectar la salud aún en la adultez. En Colombia hay poca información sobre los factores de riesgo posturales y el papel del fisioterapeuta en esta población, que sumado a las características del entorno escolar y nacional pueden profundizar la problemática, por lo que se pone en evidencia la necesidad de implementar programas que disminuyan la incidencia de estas alteraciones posturales partiendo desde su conocimiento. El propósito del presente manuscrito fue revisar las evidencias actuales sobre factores de riesgo y la importancia de la intervención del fisioterapeuta en niños y adolescentes en relación con la postura. Los principales factores de riesgo intrínsecos fueron la edad, sexo, raza y genética, y los extrínsecos el peso excesivo de la mochila, el inadecuado uso del mobiliario escolar y tiempos prolongados en determinadas posiciones. Se ha concluido, además, que el fisioterapeuta en su desempeño con población infantil y adolescente cumple un destacado rol en la prevención y diagnóstico de alteraciones posturales, evitando complicaciones tempranas e impactando positivamente en la salud de esta población

Usos de redes sociales y autoimagen en adolescentes de Instituciones Educativas en Antioquia, Colombia

The research article focuses on identifying the incidence of the use of social networks in the development of self-image in adolescents enrolled in different Educational Institutions of Antioquia, Colombia. Through a descriptive quantitative research design, with a sample of one hundred seventeen (117) participants, three (3) instruments were implemented: ad hoc self-report, social media addiction questionnaire, and self-image questionnaire. As a relevant result, it can be indicated that the association use of social networks and the development of negative self-image in adolescents cannot be generalized; the self-image is not altered due to the use of virtual platforms and in the adolescents the acceptance of themselves is evident. Individual, social and family conditions determine protective cognitive strategies and condition the functional use of social networks.El artículo de investigación se centra en identificar la incidencia del uso de redes sociales en el desarrollo de la autoimagen en adolescentes escolarizados en diferentes Instituciones Educativas de Antioquia, Colombia. Mediante un diseño de investigación cuantitativa de tipo descriptivo, con una muestra de ciento diecisiete (117) participantes, se implementaron tres (3) instrumentos: autoinforme ad hoc, cuestionario de adicción a las redes sociales y cuestionario de autoimagen. Como resultado relevante se puede indicar que no se puede generalizar la asociación del uso de las redes sociales y el desarrollo de la autoimagen negativa en adolescentes; la autoimagen no es alterada debido al uso de las plataformas virtuales y en los adolescentes se evidencia la aceptación de ellos mismos. Las condiciones individuales, sociales y familiares determinan estrategias cognitivas protectoras y condicionan el uso funcional de las redes sociales

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects

Background The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish invaders, and enslaved Africans, all of whom passed through a population bottleneck due to widespread infectious diseases that left small isolated local settlements. As a result, the current population reflects multiple founder effects derived from diverse ancestries. Methods We characterized the role of admixture and founder effects on the origination of the mutational landscape that led to neurodegenerative disorders under these historical circumstances. Genomes from 900 Colombian individuals with Alzheimer’s disease (AD) [n = 376], frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND) [n = 197], early-onset dementia not otherwise specified (EOD) [n = 73], and healthy participants [n = 254] were analyzed. We examined their global and local ancestry proportions and screened this cohort for deleterious variants in disease-causing and risk-conferring genes. Results We identified 21 pathogenic variants in AD-FTLD related genes, and PSEN1 harbored the majority (11 pathogenic variants). Variants were identified from all three continental ancestries. TREM2 heterozygous and homozygous variants were the most common among AD risk genes (102 carriers), a point of interest because the disease risk conferred by these variants differed according to ancestry. Several gene variants that have a known association with MND in European populations had FTLD phenotypes on a Native American haplotype. Consistent with founder effects, identity by descent among carriers of the same variant was frequent. Conclusions Colombian demography with multiple mini-bottlenecks probably enhanced the detection of founder events and left a proportionally higher frequency of rare variants derived from the ancestral populations. These findings demonstrate the role of genomically defined ancestry in phenotypic disease expression, a phenotypic range of different rare mutations in the same gene, and further emphasize the importance of inclusiveness in genetic studies.Q2Q2Antecedentes La población colombiana, así como la de otras regiones latinoamericanas, surgió de una mezcla tricontinental reciente entre los nativos americanos, los invasores españoles y los africanos esclavizados, todos los cuales pasaron por un cuello de botella poblacional debido a enfermedades infecciosas generalizadas que dejaron a pequeños aislados. asentamientos locales. Como resultado, la población actual refleja múltiples efectos fundadores derivados de diversas ascendencias. Métodos Caracterizamos el papel de la mezcla y los efectos fundadores en el origen del paisaje mutacional que condujo a trastornos neurodegenerativos en estas circunstancias históricas. Genomas de 900 individuos colombianos con enfermedad de Alzheimer (EA) [n = 376], continuo degeneración lobar frontotemporal-enfermedad de la motoneurona (FTLD-MND) [n = 197], demencia de inicio temprano no especificada (EOD) [n = 73 ], y participantes sanos [n = 254] fueron analizados. Examinamos sus proporciones de ascendencia global y local y examinamos esta cohorte en busca de variantes nocivas en los genes que causan enfermedades y confieren riesgos. Resultados Identificamos 21 variantes patogénicas en genes relacionados con AD-FTLD, y PSEN1 albergaba la mayoría (11 variantes patogénicas). Se identificaron variantes de las tres ascendencias continentales. Las variantes heterocigotas y homocigotas de TREM2 fueron las más comunes entre los genes de riesgo de EA (102 portadores), un punto de interés porque el riesgo de enfermedad conferido por estas variantes difería según la ascendencia. Varias variantes genéticas que tienen una asociación conocida con MND en poblaciones europeas tenían fenotipos FTLD en un haplotipo nativo americano. De acuerdo con los efectos del fundador, la identidad por descendencia entre portadores de la misma variante fue frecuente. Conclusiones La demografía colombiana con múltiples mini-cuellos de botella probablemente mejoró la detección de eventos fundadores y dejó una frecuencia proporcionalmente más alta de variantes raras derivadas de las poblaciones ancestrales. Estos hallazgos demuestran el papel de la ascendencia definida genómicamente en la expresión fenotípica de la enfermedad, un rango fenotípico de diferentes mutaciones raras en el mismo gen, y enfatizan aún más la importancia de la inclusión en los estudios genéticos.https://orcid.org/0000-0001-6529-7077https://scholar.google.com/citations?hl=es&user=kaGongoAAAAJ&view_op=list_works&sortby=pubdatehttps://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000055000&lang=esRevista Internacional - Indexad

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Background: The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish invaders, and enslaved Africans, all of whom passed through a population bottleneck due to widespread infectious diseases that left small isolated local settlements. As a result, the current population reflects multiple founder effects derived from diverse ancestries. Methods: We characterized the role of admixture and founder effects on the origination of the mutational landscape that led to neurodegenerative disorders under these historical circumstances. Genomes from 900 Colombian individuals with Alzheimer's disease (AD) [n = 376], frontotemporal lobar degeneration-motor neuron disease continuum (FTLD-MND) [n = 197], early-onset dementia not otherwise specified (EOD) [n = 73], and healthy participants [n = 254] were analyzed. We examined their global and local ancestry proportions and screened this cohort for deleterious variants in disease-causing and risk-conferring genes. Results: We identified 21 pathogenic variants in AD-FTLD related genes, and PSEN1 harbored the majority (11 pathogenic variants). Variants were identified from all three continental ancestries. TREM2 heterozygous and homozygous variants were the most common among AD risk genes (102 carriers), a point of interest because the disease risk conferred by these variants differed according to ancestry. Several gene variants that have a known association with MND in European populations had FTLD phenotypes on a Native American haplotype. Consistent with founder effects, identity by descent among carriers of the same variant was frequent. Conclusions: Colombian demography with multiple mini-bottlenecks probably enhanced the detection of founder events and left a proportionally higher frequency of rare variants derived from the ancestral populations. These findings demonstrate the role of genomically defined ancestry in phenotypic disease expression, a phenotypic range of different rare mutations in the same gene, and further emphasize the importance of inclusiveness in genetic studies

Eco-epidemiological analysis of rickettsial seropositivity in rural areas of Colombia: A multilevel approach

ABSTARCT: Rickettsiosis is a re-emergent infectious disease without epidemiological surveillance in Colombia. This disease is generally undiagnosed and several deadly outbreaks have been reported in the country in the last decade. The aim of this study is to analyze the eco-epidemiological aspects of rickettsial seropositivity in rural areas of Colombia where outbreaks of the disease were previously reported. A cross-sectional study, which included 597 people living in 246 households from nine hamlets in two municipalities of Colombia, was conducted from November 2015 to January 2016. The survey was conducted to collect sociodemographic and household characteristics (exposure) data. Blood samples were collected to determine the rickettsial seropositivity in humans, horses and dogs (IFA, cut-off = 1/128). In addition, infections by rickettsiae were detected in ticks from humans and animals by real-time PCR targeting gltA and ompA genes. Data was analyzed by weighted multilevel clog-log regression model using three levels (person, household and hamlets) and rickettsial seropositivity in humans was the main outcome. Overall prevalence of rickettsial seropositivity in humans was 25.62% (95%CI 22.11-29.12). Age in years (PR = 1.01 95%CI 1.01-1.02) and male sex (PR = 1.65 95%CI 1.43-1.90) were risk markers for rickettsial seropositivity. Working outdoors (PR = 1.20 95%CI 1.02-1.41), deforestation and forest fragmentation for agriculture use (PR = 1.75 95%CI 1.51-2.02), opossum in peridomiciliary area (PR = 1.56 95%CI 1.37-1.79) and a high proportion of seropositive domestic animals in the home (PR20-40% vs 40% vs <20% = 3.14 95%CI 2.43-4.04) were associated with rickettsial seropositivity in humans. This study showed the presence of Rickettsia antibodies in human populations and domestic animals. In addition, different species of rickettsiae were detected in ticks collected from humans and animals. Our results highlighted the role of domestic animals as sentinels of rickettsial infection to identify areas at risk of transmission, and the importance of preventive measures aimed at curtailing deforestation and the fragmentation of forests as a way of reducing the risk of transmission of emergent and re-emergent pathogens

Enfermedades crónicas

Adherencia al tratamiento farmacol&oacute;gico y relaci&oacute;n con el control metab&oacute;lico en pacientes con DM2Aluminio en pacientes con terapia de reemplazo renal cr&oacute;nico con hemodi&aacute;lisis en Bogot&aacute;, ColombiaAmputaci&oacute;n de extremidades inferiores: &iquest;est&aacute;n aumentando las tasas?Consumo de edulcorantes artificiales en j&oacute;venes universitariosC&oacute;mo crecen ni&ntilde;os normales de 2 a&ntilde;os que son sobrepeso a los 7 a&ntilde;osDiagn&oacute;stico con enfoque territorial de salud cardiovascular en la Regi&oacute;n MetropolitanaEfecto a corto plazo de una intervenci&oacute;n con ejercicio f&iacute;sico, en ni&ntilde;os con sobrepesoEfectos de la cirug&iacute;a bari&aacute;trica en pacientes con s&iacute;ndrome metab&oacute;lico e IMC &lt; 35 KG/M2Encuesta mundial de tabaquismo en estudiantes de profesiones de saludEnfermedades cr&oacute;nicas no transmisibles: Consecuencias sociales-sanitarias de comunidades rurales en ChileEpidemiolog&iacute;a de las muertes hospitalarias por patolog&iacute;as relacionadas a muerte encef&aacute;lica, Chile 2003-2007Estado nutricional y conductas alimentarias en adolescentes de 4&ordm; medio de la Regi&oacute;n de CoquimboEstudio de calidad de vida en una muestra del plan piloto para hepatitis CEvaluaci&oacute;n del proceso asistencial y de resultados de salud del GES de diabetes mellitus 2Factores de riesgo cardiovascular en poblaci&oacute;n universitaria de la Facsal, universidad de Tarapac&aacute;Implicancias psicosociales en la g&eacute;nesis, evoluci&oacute;n y tratamiento de pacientes con hipertensi&oacute;n arterial esencialInfarto agudo al miocardio (IAM): Realidad en el Hospital de Puerto Natales, 2009-2010Introducci&oacute;n de nuevas TIC y mejor&iacute;a de la asistencia a un programa de saludNi&ntilde;os obesos atendidos en el Cesfam de Puerto Natales y su entorno familiarPerfil de la mortalidad por c&aacute;ncer de cuello uterino en R&iacute;o de JaneiroPerfil del paciente primo-consultante del Programa de Salud Cardiovascular, Consultorio Cordillera Andina, Los AndesPrevalencia de automedicaci&oacute;n en mujeres beneficiarias del Hospital Comunitario de Til-TiPrevalencia de caries en poblaci&oacute;n preescolar y su relaci&oacute;n con malnutrici&oacute;n por excesoPrevalencia de retinopat&iacute;a diab&eacute;tica en comunas dependientes del Servicio de Salud Metropolitano Occidente (SSMOC)Problemas de adherencia farmacol&oacute;gica antihipertensiva en poblaci&oacute;n mapuche: Un estudio cualitativoRol biol&oacute;gico de los antioxidantes innatos en pacientes portadores de VIH/SidaSobrepeso en empleados de un restaurante de una universidad p&uacute;blica del estado de S&atilde;o Paul

Advancements in dementia research, diagnostics and care in Latin America : highlights from the 2023 Alzheimer's association international conference satellite symposium in Mexico City

While Latin America (LatAm) is facing an increasing burden of dementia due to the rapid aging of the population, it remains underrepresented in dementia research, diagnostics and care. In 2023, the Alzheimer’s Association hosted its eighth Satellite Symposium in Mexico, highlighting emerging dementia research, priorities, and challenges within LatAm. A wide range of topics were covered, including epidemiology, social determinants, dementia national plans, risk reduction, genetics, biomarkers, biobanks, and advancements in treatments. Large initiatives in the region including intra-country support showcased their efforts in fostering national and international collaborations; genetic studies unveiled the unique genetic admixture in LatAm; emerging clinical trials discussed ongoing culturally specific interventions; and the urgent need to harmonize practices and studies, improve diagnosis and care and implement affordable biomarkers in the region was highlighted

The influence of demographic history on the genetics of neurodegenerative illnesses in Colombia

High throughput genomic technologies have radically changed the way we understand the genetic landscape of disease. As the field of genomic medicine is growing exponentially, challenges like “lack of transferability" of genetic studies (such as polygenic risk scores) between populations arise. One of the main reasons for this issue, is that recent evolutionary history has created differences in the genetic architecture for disease between human populations. As an example, rare variants show higher geographic clustering and tend to be population-specific. Linkage disequilibrium structure and haplotype blocks around common variants are affected by demographic history as well. One way to circumvent this obstacle is to incorporate diverse populations into genetics studies. Admixed cohorts have proven to be particularly valuable to identify genetic risk for illnesses that are stratified between ancestral origins. This dissertation presents a series of genomic analyses on Colombian individuals with neurodegenerative diseases. We demonstrate that the demographic history of this population affected the genetic burden for neurological disorders, and that by studying individuals with genetic forms of these diseases, we can expand our understanding of the genetic basis of neurodegeneration.The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish invaders and enslaved Africans, all of whom passed through a population bottleneck due to widespread infectious diseases that left small isolated local settlements. As a result, the current population reflects multiple founder effects derived from diverse ancestors. We performed whole genome sequencing in a large cohort of Colombian individuals with Alzheimer’s disease (AD), frontotemporal lobar degeneration-motoneuron disease continuum, early onset dementia and healthy participants. We analyzed their global and local ancestry proportions and screened this cohort for deleterious variants in disease-causing and risk-conferring genes. Then, we present a deeper analysis of one of the families with genetic AD due to a novel variant in PSEN1 (Ile416Thr) of African origin. We describe the phenotype of the symptomatic carriers, as well as their brain accumulation of amyloid-beta and Tau prior to disease onset. Lastly, we explore genetic modifiers of the age at onset for dementia in a large family with autosomal dominant AD due to PSEN1 Glu280Ala. We performed a classic whole genome association study and a novel approach for genetic association using a package that performs a likelihood ratio test with a linear mixed model to adjust for relatedness between individuals. The genomes revealed multiple rare mutations associated with various forms of adult onset familial dementias. Most of these mutations originated from founders and, remarkably, when the entire founder set of mutations was considered together, the genetic consequences of the local demographic histories emerged. In addition, we identified dozens of genome-wide significant loci that modified the age at onset for AD in the Glu280Ala kindred. We also observed a substantial number of individuals with an age of onset well beyond the typical age of onset for this kindred, some of which had high impact coding variants with effect sizes similar to the APOE Christchurch variant (Arg154Ser) recently described in another study.The results here reveal an unexpected genetic richness in a large Colombian cohort selected for the presence of neurodegenerative conditions affecting cognition. Our results suggests that the demographic history of Colombia is likely to underlie the modern clustering of familial neurodegenerative diseases arising from multi-ancestral rare disease-associated alleles. It additionally reinforces the value of these large families with genetic neurodegenerative diseases as platforms for genetic discovery. This set is to our knowledge the largest published study in the literature of the genetics of dementia in a Hispanic descent population. Furthermore, this dissertation underscores the numerous insights that can emerge from Latin American population and the importance of inclusiveness in future genetic studies